New human combined immunodeficiency caused by interferon regulatory factor 4 (IRF4) deficiency inherited by uniparental isodisomy.

Authors :: Bravo García-Morato M
Aracil Santos FJ
Briones AC
Blázquez Moreno A
Del Pozo Maté Á
Domínguez-Soto Á
Beato Merino MJ
Del Pino Molina L
Torres Canizales J
Marin AV
Vallespín García E
Feito Rodríguez M
Plaza López Sabando D
Jiménez-Reinoso A
Mozo Del Castillo Y
Sanz Santaeufemia FJ
de Lucas-Laguna R
Cárdenas PP
Casamayor Polo L
Coronel Díaz M
Valés-Gómez M
Roldán Santiago E
Ferreira Cerdán A
Nevado Blanco J
Corbí ÁL
Reyburn HT
Regueiro JR
López-Granados E
Rodríguez Pena R
Source :: The Journal of allergy and clinical immunology [J Allergy Clin Immunol] 2018 May; Vol. 141 (5), pp. 1924-1927.e18. Date of Electronic Publication: 2018 Mar 02.
Publication Year :: 2018

Subjects :: Animals
Cells, Cultured
Female
Humans
Infant
Mice
Immunologic Deficiency Syndromes immunology
Interferon Regulatory Factors immunology
Uniparental Disomy immunology

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